Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.R201*
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MC2R

NM_000529.2:p.R201*

Associated Papers

The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.

Heshmatzad K et al.

International Journal of Endocrinology, 2020

32952553 (PubMed )
Supplement: 2190508.f1.docx

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.

Chung TT et al.

Clinical Endocrinology, 2010

Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.

Chan LF et al.

Hormone Research, 2008

Adrenocorticotropin resistance syndromes.

Cooray SN et al.

Endocrine Development, 2008

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.

Flück CE et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Mutations of the ACTH receptor gene in a new family with isolated glucocorticoid deficiency.

Tsigos C et al.

Molecular Genetics and Metabolism, 2000

Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH.

Ishii T et al.

Clinical Endocrinology, 2000

Familial glucocorticoid deficiency: one syndrome, but more than one gene.

Clark AJ et al.

Journal of Molecular Medicine (berlin, Germany), 1997

Isolated glucocorticoid deficiency and ACTH receptor mutations.

Tsigos C

Archives of Medical Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."